Monitoring for cancer risk in neurofibromatosis type 1 tumors

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to identify which benign tumors associated with neurofibromatosis type 1 (NF1) may transform into malignant tumors. Participants aged 3 years and older with a clinical or genetic diagnosis of NF1 will undergo a series of assessments, including medical history reviews, blood tests, imaging scans, and cognitive evaluations for those aged 8 and older. The study will focus on distinguishing between benign and potentially malignant tumors using advanced imaging techniques and genetic markers. The ultimate goal is to improve surveillance strategies for patients at risk of malignant transformation.

Why it matters

Who can join: the full rules

* INCLUSION CRITERIA:

High-Risk and Low-Risk NF1 Cohorts

* Age \>= 3 years old
* Participants with clinical or genetic diagnosis of NF1.
* Participants with a diagnosis of mosaic or segmental NF1 are also eligible.
* Individuals may have (High-Risk Cohort) or not have (Low-Risk Cohort) at least one of the following characteristics:

  * Microdeletion or 844-848 missense variants or other variants associated with increased risk of malignant peripheral nervous sheath tumor (MPNST)
  * Family history of MPNST / atypical neurofibromatous neoplasm of unknown biologic potential (ANNUBP) / atypical neurofibromas (ANF)
  * Personal history of MPNST/ANNUBP/ANF or neurofibroma with CDKN2A/B loss
  * Prior radiation therapy at any site
  * Large plexiform neurofibroma (PN) burden (\>= 350 mL)
  * Presence \>= 1 DNL at baseline
* The ability of the individual, parent/guardian or Legally Authorized Representative (LAR) to understand and the willingness to sign a written consent document for participation.

EXCLUSION CRITERIA:

High-Risk and Low-Risk NF1 Cohorts

\- Inability or unwillingness to undergo MRI imaging

INCLUSION CRITERIA:

Parent Cohort

* Parent or guardian of pediatric individuals (8-17 years old) in High-Risk or Low-Risk Cohorts.
* The ability of the parent/guardian or LAR to understand and the willingness to sign a written consent document for parent/guardian participation in this study.

EXCLUSION CRITERIA:

Parent Cohort

\- None.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Brigitte C Widemann, M.D. — National Cancer Institute (NCI)
• Study coordinator: Jennifer E Derise
• Email: jennifer.derise@nih.gov
• Phone: (240) 575-8520

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.